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Myeloproliferative Neoplasms Case Studies

Case Studies: High-Risk Primary Myelofibrosis

In this case-based interview, Daniel DeAngelo, MD, PhD, provides an overview on diagnosis and treatment of a young patient with symptomatic primary myelofibrosis.

High-Risk Primary Myelofibrosis

  • A 53-year-old woman complains of increasing abdominal discomfort, early satiety, and 15-lb weight loss over the past 5 months
  • Abdominal examination reveals splenomegaly, palpable 8 cm. below the costal margin without hepatomegaly
  • CT scans of the chest, abdomen, and pelvis reveal moderate mediastinal lymphadenopathy and splenomegaly
  • Laboratory values:
    • WBC: 1.9 x 103 cells/mm3
    • ANC: 1.4 x 103 cells/mm3
    • Hb: 9.1 gm/dl
    • Platelets: 77,000 cells/mm3
  • Bone marrow biopsy:
    • MF-3
    • CD34+/CD117+ immunostaining demonstrated 1.2% blasts
    • JAK2-V617F mutation
  • Diagnosis: primary myelofibrosis
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